Canonical Allele Identifier: CA368839134

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107330582T>G (hg19) ; chr7:g.107690137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107690137T>G , CM000669.2:g.107690137T>G	GRCh38
NC_000007.13:g.107330582T>G , CM000669.1:g.107330582T>G	GRCh37
NC_000007.12:g.107117818T>G	NCBI36
NG_008489.1:g.34503T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1163T>G MANE Select	ENSP00000494017.1:p.Phe388Cys
ENST00000265715.7:c.1163T>G	ENSP00000265715.3:p.Phe388Cys
NM_000441.1:c.1163T>G	NP_000432.1:p.Phe388Cys
XM_005250425.1:c.1163T>G	XP_005250482.1:p.Phe388Cys
XM_006716025.2:c.1163T>G	XP_006716088.1:p.Phe388Cys
XM_005250425.2:c.1163T>G	XP_005250482.1:p.Phe388Cys
XM_006716025.3:c.1163T>G	XP_006716088.1:p.Phe388Cys
XM_017012318.1:c.1163T>G	XP_016867807.1:p.Phe388Cys
NM_000441.2:c.1163T>G MANE Select	NP_000432.1:p.Phe388Cys